A child with a novel ACAN missense variant mimicking a septic arthritis

A child with a novel ACAN missense variant mimicking a septic arthritis

Abstract Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T...

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Bibliographic Details
Main Authors: Angelo Florio, Riccardo Papa, Roberta Caorsi, Alessandro Consolaro, Roberto Gastaldi, Marco Gattorno, Paolo Picco
Format: Article
Language:English
Published: BMC 2019-11-01
Series:Italian Journal of Pediatrics
Subjects:
Pediatric rheumatology
Arthritis
Osteochondritis dissecans
ACAN
Aggrecanopathy
Online Access:http://link.springer.com/article/10.1186/s13052-019-0719-6
Description
Summary:Abstract Heterozygous mutations of the ACAN gene have been associated with a broad spectrum of non-lethal skeletal dysplasias, called Aggrecanopathies. We report a case of a child with severe inflammatory elbow involvement mimicking septic arthritis who carried the new ACAN missense variant c.6970 T > C, p.Trp2324Arg. The comprehensive clinical evaluation of the patient and his family, focused on the associated clinical features (facial dysmorphisms, short stature, brachydactily), led us to suspect a hereditary condition. Our findings suggest that Aggrecanopathies should be considered in children with familial short stature, poor growth spurt and joint involvement.
ISSN:1824-7288

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